Variant report

Variant	rs12818452
Chromosome Location	chr12:31867507-31867508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31811076..31814149-chr12:31866420..31869336,3	K562	blood:
2	chr12:31810792..31812576-chr12:31866206..31867920,2	K562	blood:
3	chr12:31866804..31870237-chr12:31900678..31903673,4	K562	blood:

Variant related genes	Relation type
ENSG00000256843	Chromatin interaction
ENSG00000139160	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11051543	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303424	0.81[EUR][1000 genomes]
rs2170768	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7968269	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv898967	chr12:31858031-31899475	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2422415	chr12:31863360-31930722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
2	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:31839800-31871800	Weak transcription	Gastric	stomach
5	chr12:31841600-31870000	Weak transcription	Pancreas	Pancrea
6	chr12:31844600-31871800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:31846400-31871800	Weak transcription	Lung	lung
8	chr12:31849000-31880000	Weak transcription	Psoas Muscle	Psoas
9	chr12:31850800-31867600	Weak transcription	Brain Substantia Nigra	brain
10	chr12:31851000-31880800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:31852800-31871000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:31852800-31879600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:31854800-31867600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:31855000-31867600	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:31855400-31867600	Weak transcription	Stomach Mucosa	stomach
16	chr12:31858000-31867600	Weak transcription	A549	lung
17	chr12:31858000-31867800	Weak transcription	HUVEC	blood vessel
18	chr12:31859000-31871800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:31860400-31872400	Weak transcription	Fetal Kidney	kidney
20	chr12:31860600-31874000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:31860800-31871800	Weak transcription	Ovary	ovary
22	chr12:31860800-31881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:31861000-31871800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:31862200-31880600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:31862400-31871800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:31862600-31867800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:31862600-31868000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:31862600-31868200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:31862600-31868400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:31862600-31871200	Weak transcription	Fetal Lung	lung
31	chr12:31862600-31871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:31862800-31867600	Weak transcription	Primary T cells from cord blood	blood
33	chr12:31862800-31867600	Weak transcription	Thymus	Thymus
34	chr12:31862800-31871800	Weak transcription	Aorta	Aorta
35	chr12:31862800-31874200	Weak transcription	Left Ventricle	heart
36	chr12:31863800-31868000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:31864000-31871800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:31864800-31868200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:31865200-31868400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:31865400-31871800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:31866600-31868400	Weak transcription	Fetal Thymus	thymus
42	chr12:31866600-31871600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:31867000-31867800	Enhancers	K562	blood
44	chr12:31867200-31867600	Enhancers	HepG2	liver
45	chr12:31867200-31868200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr12:31867200-31868800	Enhancers	Brain Anterior Caudate	brain
47	chr12:31867200-31868800	Enhancers	Placenta	Placenta
48	chr12:31867400-31867600	Enhancers	Spleen	Spleen
49	chr12:31867400-31867800	Enhancers	Primary B cells from cord blood	blood
50	chr12:31867400-31867800	Enhancers	Monocytes-CD14+_RO01746	blood

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